Health Professionals

Obstetrics and General Genetic Services (OGGS) - Referral Guidelines

As a general rule, patients who would benefit from a referral to OGGS would fit into one of the following categories:

  • An adult with a clinically relevant chromosomal abnormality or features suggestive of a genetic disorder
  • An adult who is a carrier of a recessive condition where the partner is also a carrier, particularly if the patient is considering pregnancy
    • cystic fibrosis
    • a significant haemoglobinopathy
  • A family history of a specific genetic disorder, particularly if the patient is considering pregnancy
  • Planned or confirmed pregnancy between close relatives (consanguinity)
  • Diagnosis of a fetal anomaly and the patient requires counselling
  • Known diagnosis of Marfan Syndrome (please ensure the patient has had an examination of the heart and ascending aorta via echocardiogram and has been reviewed by an ophthalmologist)
  • Significant connective tissue or joint hypermobility syndrome which is usually characterised by one of more of the following features:
    • Excessive bruising
    • History of arterial/intestinal/uterine/globe fragility or rupture
    • Severe generalised joint hypermobility with recurrent subluxations
  • Diagnosis of specific cardiac condition where there may be an underlying genetic cause, e.g.:
    • Long QT syndrome
    • Brugada syndrome
    • Catecholaminergic polymorphoic ventricular tachycardia (CPVT)
  • Severe hearing loss that where there may be an underlying genetic cause. The hearing loss must be congenital, severe and bilateral. An appointment may also be offered if:
    • There is a significant family history
    • The hearing loss if thought to be a part of a syndrome
    • Imaging has shown associated structural anomalies.

Please note we do not routinely accept referrals for the following:

  • Increased risk on routine antenatal screening. Please contact the Maternal Fetal Medicine Service on (08) 6458 2705.
  • History of exposure to teratogens during pregnancy. Please contact the Obstetric Medicines Information Service on (08) 6458 2723.
  • History of multiple miscarriages (unless a genetic cause is detected on karyotyping, such as a translocation).
  • Paternity testing
  • MTHFR gene-related concerns

Should you have any queries regarding your patient and their suitability for referral to our service, please do not hesitate to contact the duty genetic counsellor to discuss. You can get in touch on (08) 6458 1525.

We do not have a specific referral form for OGGS. Please make sure you include the following pertinent details:

  • Patient demographics - full name, DOB, address and telephone number
  • Reason for referral
  • Relevant personal and family history
  • Copies of relevant test results
  • Referrer's name and practice address and telephone number
Familial Cancer Program (FCP) - Referral Guidelines

Most cancers occur by chance and are not caused by an inherited predisposition. Less than 1% of people are at a potentially high risk of cancer due to an hereditary predisposition. Genetic Services accepts referrals based upon specific criteria.

Please review the referral guidelines at eviQ prior to referral.

As a general rule, patients who would benefit from a referral to the Familial Cancer Program would fit into one of the following categories:

  • Cancer gene mutation in a blood relative (eg. BRCA1, MLH1)
  • Strong family history (eg. THREE 1st or 2nd degree relatives with SAME or related cancers, or TWO 1 st or 2nd degree relatives with SAME or related cancer with one diagnosed <50yrs)
  • Personal history of cancer with one or more high risk features

High risk features

Cancer Type High risk features
Breast <40 years 
Triple negative pathology <50 years 
Bilateral breast, one <50 years 
Male breast cancer 
Jewish ancestry 
Family history of ovarian cancer 
Ovarian <70 years (certain pathologies only
Jewish ancestry 
Family history of breast or ovarian cancer
Endometrial <50 years 
Loss of mismatch repair gene expression
Colorectal cancer or polyposis 
Loss of mismatch repair gene expression 
Colorectal cancer <50 years 
Colorectal polyps < 30 years 
>20 colorectal polyps < 60 years
Other Multiple primaries of same/related type 
(eg. breast and ovarian or Lynch Syndrome cancers – bowel, ovarian, 
renal, endometrial, gastric, pancreas, brain, cholangiocarcinoma) 
Rare tumours (see renalendocrine and gastric cancer referral guidelines)

Should you have any queries regarding your patient and their suitability for referral to our service, please do not hesitate to contact the duty genetic counsellor to discuss. You can get in touch on (08) 6458 1603.

Our referral form is specifically designed to assist you in making your referral as streamlined as possible. The more information you are able to provide, the easier and quicker the process is for your patient. The last page of the referral is an information sheet for your patient about the Familial Cancer Program. Please print and give this to your patient at the time of referral.

Helpful Links

General Paediatric Services (GPS) – Referral Guidelines
As a general rule, children who would benefit from a referral to our service would fit into one of the following categories:
  • There are unexplained congenital anomalies (please review strict referral guidelines for cleft lip and palate below)
  • The child has features suggestive of a specific genetic disorder (dysmorphic features)
  • There are unexplained childhood disabilities affecting
    • hearing (please review strict referral guidelines below)
    • vision and/or;
    • intellectual development
  • The child has Autism Spectrum Disorder (please review strict referral guidelines below)
  • There is evidence of unexplained growth patterns
  • There is a known family history of a genetic disorder
  • The family or carers require counselling following a genetic diagnosis in a child (relating to adjustment and coping, talking with children/family/friends/school, pregnancy planning and decision-making)
  • The child is identified as carrier of cystic fibrosis through the newborn screening test (reflex referral)

Should you have any queries regarding your patient and their suitability for referral to our service, please do not hesitate to contact the duty genetic counsellor to discuss. You can get in touch on (08) 6458 1625.

Our referral form is specifically designed to assist you in making your referral as streamlined as possible. The more information you are able to provide, the easier and quicker the process is for your patient.

Helpful Links


Cleft Lip and Palate Guidelines

An appointment is offered when one of more of the following criteria is met:

  • Pierre-Robin Sequence has been identified
  • Other abnormalities have been identified e.g. abnormalities in other organs, intellectual disability, facial dysmorphism
  • Extensive family history of cleft lip and palate
Hearing Loss Guidelines

An appointment will only be offered with GSWA where the hearing loss is severe to profound, congenital (diagnosed at the newborn screen or before age 2) and bilateral.

An appointment may be offered if:

  • There is a significant family history
  • The hearing loss is thought to be a part of a syndrome
  • The child has dysmorphic features
  • There are other musculoskeletal abnormalities
  • Imagining has been performed confirming associated structural anomalies

Please note: Please consider an MRI or CT scan prior to referral and if complete, include the report with the referral.

Autism Spectrum Disorder Guidelines

An appointment is offered when one or more of the following criteria is met:

  • Other abnormalities have been identified e.g. abnormalities in other organs, intellectual disability, facial dysmorphism
  • Extensive family history of Autism Spectrum Disorder
  • A pathogenic variant has been identified on chromosomal microarray
  • A chromosomal variant of unknown significance has been identified

More information

  • GENETests – medical information resource for health professionals
  • OMIM – compendium of human genes and genetic phenotypes
  • Cancer Council - Australia's independent cancer authority: information on prevention, research, treatment and support
  • eviQ – genetic cancer referral guidelines, testing for inheritable cancer mutations and risk management strategies
  • Centre for Genetics Education (NSW) – information about genetic conditions, referrals, online education and patient fact sheets